view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHCHD3_chr7_132779870_133087090 | 132914123 | CGTGTGT | C | intron_variant | MODIFIER | HG02055.hp1 HG03453.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0212 others(3): Show |
6 | 310 | 0.0194 | -6 | c.370 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | GGTGTGT | G | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 others(3): Show |
6 | 310 | 0.0194 | -6 | c.369 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126714076 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(2): Show |
5 | 216 | 0.0232 | -6 | c.87+ others(21): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126823880 | TACAAAA | T | intron_variant | MODIFIER | HG02132.hp1 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0197 a0002c0002t0001g0014 |
2 | 216 | 0.0093 | -6 | c.412 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126863071 | ATCACCT | A | intron_variant | MODIFIER | HG02897.hp2 HG03225.hp2 HG04228.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0073 |
3 | 216 | 0.0139 | -6 | c.495 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | chr3 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126922622 | CGTGTGT | C | intron_variant | MODIFIER | HG00408.hp2 HG01255.hp1 HG01496.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0141 a0001c0001t0001g0211 a0001c0001t0001g0212 others(27): Show |
30 | 216 | 0.1389 | -6 | c.566 others(23): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126932671 | TTGGCAC | T | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(2): Show |
5 | 216 | 0.0232 | -6 | c.566 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126956695 | TTATCTA | T | intron_variant | MODIFIER | HG00408.hp2 HG01255.hp1 HG02004.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0141 a0002c0002t0001g0002 a0002c0002t0001g0003 others(25): Show |
28 | 216 | 0.1296 | -6 | c.567 others(21): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD7_chr8_56206789_56223809 | 56216890 | TTTTCTC | T | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0030 |
7 | 384 | 0.0182 | -6 | c.153 others(21): Show |
CHCHD7 | ENSG00000170791.18 | transcript | ENST00000355315.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHCT1_chr17_60417489_60436426 | 60417781 | ATTTATT | A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0035 a0002c0003t0001g0004 others(4): Show |
31 | 322 | 0.0963 | -6 | c.-48 others(17): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 4707 | chr17 | TogoVar | |||||||
CHCT1_chr17_60417489_60436426 | 60419817 | AATTATT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00673.hp1 others(64): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0027 others(16): Show |
67 | 322 | 0.2081 | -6 | c.-27 others(17): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 2671 | chr17 | TogoVar | |||||||
CHCT1_chr17_60417489_60436426 | 60430122 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02145.hp2 others(11): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0006 a0002c0005t0001g0024 a0002c0005t0001g0039 others(3): Show |
14 | 322 | 0.0435 | -6 | c.625 others(21): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147254338 | CCTAGCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(58): Show |
a0003a0007a0013 | a0003c0003a0003c0012a0007c0015others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0012t0002others(2): Show | a0003c0003t0001g0013 a0003c0003t0001g0163 a0003c0003t0001g0182 others(44): Show |
61 | 418 | 0.1459 | -6 | c.241 others(21): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98883857 | ATATATT | A | intron_variant | MODIFIER | HG01516.hp1 NA18957.hp2 NA19058.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0046 a0001c0001t0001g0098 a0001c0001t0001g0143 others(4): Show |
7 | 334 | 0.0210 | -6 | c.256 others(23): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98913780 | TAATACA | T | intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01358.hp1 others(32): Show |
a0002a0003 | a0002c0002a0003c0009 | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(6): Show | a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0077 others(32): Show |
35 | 334 | 0.1048 | -6 | c.54- others(21): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 92918856 | CATATAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0002t0002g0231 a0001c0002t0003g0228 a0001c0002t0005g0227 others(3): Show |
6 | 306 | 0.0196 | -6 | c.63- others(21): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92965565 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0002a0001c0010a0001c0014 | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(2): Show | a0001c0002t0002g0231 a0001c0002t0003g0228 a0001c0002t0005g0220 others(4): Show |
7 | 306 | 0.0229 | -6 | c.200 others(25): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92999083 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG03453.hp1 HG03453.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0001g0207 a0001c0001t0009g0009 a0001c0001t0009g0011 others(6): Show |
9 | 306 | 0.0294 | -6 | c.400 others(23): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 93013928 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0141 a0001c0002t0001g0091 a0001c0002t0001g0286 others(9): Show |
13 | 306 | 0.0425 | -6 | c.469 others(23): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 93021271 | CATCCTT | C | intron_variant | MODIFIER | HG01069.hp2 HG02280.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0009t0002others(1): Show | a0001c0001t0002g0008 a0001c0001t0002g0278 a0001c0001t0002g0295 others(6): Show |
9 | 306 | 0.0294 | -6 | c.515 others(25): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 38/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885307 | CCCGCCG | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(48): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0021 others(29): Show |
51 | 366 | 0.1393 | -6 | c.-36 others(17): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | |||||||
CHD5_chr1_6096787_6185321 | 6159227 | TCACACA | T | intron_variant | MODIFIER | HG01358.hp2 HG01361.hp2 HG02809.hp2 others(12): Show |
a0001a0002 | a0001c0009a0001c0010a0001c0028others(1): Show | a0001c0009t0003a0001c0009t0004a0001c0009t0014others(5): Show | a0001c0009t0003g0281 a0001c0009t0004g0139 a0001c0009t0014g0059 others(11): Show |
15 | 320 | 0.0469 | -6 | c.387 others(21): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 3/41 | chr1 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG02818.hp1 HG03516.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0007 | a0001c0001t0001a0001c0001t0002a0002c0004t0004others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0078 others(8): Show |
11 | 324 | 0.0340 | -6 | c.612 others(23): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41498805 | GTATGTA | G | intron_variant | MODIFIER | HG00597.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
a0001a0012 | a0001c0001a0012c0019 | a0001c0001t0001a0001c0001t0005a0012c0019t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0005g0047 others(1): Show |
4 | 324 | 0.0124 | -6 | c.915 others(21): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41498807 | ATGTATG | A | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0103 a0001c0001t0001g0104 others(6): Show |
9 | 324 | 0.0278 | -6 | c.915 others(21): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41559147 | GACACAC | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(152): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0055 a0001c0001t0001g0202 a0001c0001t0001g0203 others(152): Show |
155 | 324 | 0.4784 | -6 | c.-23 others(23): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41591379 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(77): Show |
a0001a0010a0011 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(5): Show | a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(77): Show |
80 | 324 | 0.2469 | -6 | c.-24 others(25): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
CHD7_chr8_60673740_60873028 | 60675339 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0030 | a0001c0003t0004g0107 a0001c0003t0004g0108 a0001c0003t0004g0171 others(3): Show |
6 | 236 | 0.0254 | -6 | c.-39 others(17): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3400 | chr8 | TogoVar | |||||||
CHD7_chr8_60673740_60873028 | 60714406 | GCCCCCC | G | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG01515.hp2 others(15): Show |
a0001a0002a0016 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(7): Show | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0047 others(15): Show |
18 | 236 | 0.0763 | -6 | c.-17 others(27): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60759482 | TCTCTCC | T | intron_variant | MODIFIER | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(12): Show |
a0001a0006a0010others(2): Show | a0001c0001a0001c0006a0001c0018others(7): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(11): Show | a0001c0001t0002g0118 a0001c0001t0007g0208 a0001c0001t0012g0102 others(12): Show |
15 | 236 | 0.0636 | -6 | c.166 others(27): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60810380 | AGTGTGT | A | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0002t0006 | a0001c0001t0023g0213 a0001c0002t0006g0109 a0001c0002t0006g0114 |
3 | 236 | 0.0127 | -6 | c.249 others(25): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21434039 | CTTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0001t0005a0001c0014t0001 | a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0142 others(12): Show |
15 | 260 | 0.0577 | -6 | c.-21 others(25): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD9NB_chr16_53036484_53057897 | 53049322 | TTGTGTG | T | intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01433.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0021 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0002c0002t0021g0193 |
3 | 406 | 0.0074 | -6 | c.-18 others(25): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHD9NB_chr16_53036484_53057897 | 53051768 | AATATAT | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0182 a0001c0001t0006g0048 a0001c0001t0006g0216 others(5): Show |
9 | 406 | 0.0222 | -6 | c.-18 others(23): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53051768 | AATATAT | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(4): Show | a0001c0001t0001g0110 a0001c0001t0001g0182 a0001c0001t0003g0016 others(6): Show |
9 | 238 | 0.0378 | -6 | c.-34 others(17): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3222 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53063358 | TCACACA | T | intron_variant | MODIFIER | HG02055.hp1 HG03041.hp1 HG03540.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 others(4): Show |
7 | 238 | 0.0294 | -6 | c.-16 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53162620 | TATACTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(49): Show |
a0002a0004a0007 | a0002c0002a0002c0019a0004c0006others(1): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0014others(3): Show | a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 others(49): Show |
52 | 238 | 0.2185 | -6 | c.145 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53170578 | CGTGTGT | C | intron_variant | MODIFIER | HG03017.hp1 HG03688.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 a0002c0002t0001g0140 |
2 | 238 | 0.0084 | -6 | c.145 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53171855 | CACACAG | C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02155.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0005t0005others(2): Show | a0001c0001t0001g0084 a0001c0001t0001g0230 a0001c0001t0003g0112 others(16): Show |
19 | 238 | 0.0798 | -6 | c.145 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53171861 | GACACAC | G | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01099.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0010others(4): Show | a0001c0001t0001g0159 a0001c0003t0002g0002 a0001c0003t0002g0005 others(27): Show |
30 | 238 | 0.1261 | -6 | c.145 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53204046 | AAAATAT | A | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00735.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0016 | a0001c0001t0001a0001c0001t0015a0001c0003t0001others(5): Show | a0001c0001t0001g0068 a0001c0001t0015g0166 a0001c0003t0001g0158 others(19): Show |
22 | 238 | 0.0924 | -6 | c.145 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53204107 | TTCTTTA | T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0079 others(17): Show |
20 | 238 | 0.0840 | -6 | c.145 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53204123 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(62): Show |
a0001a0002a0004others(1): Show | a0001c0005a0002c0002a0002c0019others(2): Show | a0001c0005t0004a0001c0005t0012a0001c0005t0018others(6): Show | a0001c0005t0004g0078 a0001c0005t0004g0104 a0001c0005t0004g0169 others(62): Show |
65 | 238 | 0.2731 | -6 | c.145 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53313704 | GGAGGCC | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(71): Show |
a0001a0002a0004others(2): Show | a0001c0005a0002c0002a0002c0019others(3): Show | a0001c0005t0004a0001c0005t0005a0001c0005t0011others(9): Show | a0001c0005t0004g0078 a0001c0005t0004g0104 a0001c0005t0004g0169 others(71): Show |
74 | 238 | 0.3109 | -6 | c.722 others(23): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53808190 | GGATCAC | G | downstream_gene_variant | MODIFIER | HG02717.hp1 HG03486.hp1 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0032a0002c0002t0075 | a0002c0002t0032g0012 a0002c0002t0075g0074 |
3 | 392 | 0.0077 | -6 | c.*95 others(17): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 4144 | chr3 | TogoVar | |||||||
CHDH_chr3_53807335_53851419 | 53810781 | AAAAAAC | A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0052a0001c0007t0053a0001c0007t0151others(2): Show | a0001c0007t0052g0025 a0001c0007t0053g0210 a0001c0007t0151g0209 others(2): Show |
6 | 392 | 0.0153 | -6 | c.*69 others(17): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 1553 | chr3 | TogoVar | |||||||
CHDH_chr3_53807335_53851419 | 53828162 | GACACAC | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(33): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(15): Show | a0001c0001t0001g0030 a0001c0001t0001g0233 a0001c0001t0001g0237 others(26): Show |
36 | 392 | 0.0918 | -6 | c.-59 others(23): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
CHDH_chr3_53807335_53851419 | 53838314 | CCAGAGT | C | intron_variant | MODIFIER | HG01952.hp1 HG02055.hp2 HG02486.hp1 others(1): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0004others(1): Show | a0001c0003t0129a0002c0002t0042a0003c0004t0004others(1): Show | a0001c0003t0129g0192 a0002c0002t0042g0191 a0003c0004t0004g0193 others(1): Show |
4 | 392 | 0.0102 | -6 | c.-60 others(23): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28702135 | CTGTGTG | C | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG02602.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0043 others(1): Show |
4 | 384 | 0.0104 | -6 | c.908 others(23): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 8/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28704121 | GACACAC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0104 others(67): Show |
71 | 384 | 0.1849 | -6 | c.847 others(21): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar |